Canonical Allele Identifier: CA381459651

Gene: BBS1 ZDHHC24

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66521376G>A , CM000673.2:g.66521376G>A	GRCh38
NC_000011.9:g.66288847G>A , CM000673.1:g.66288847G>A	GRCh37
NC_000011.8:g.66045423G>A	NCBI36
NG_009093.1:g.15729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.830G>A (BBS1) MANE Select	ENSP00000317469.7:p.Arg277Lys
ENST00000318312.11:c.830G>A (BBS1)	ENSP00000317469.7:p.Arg277Lys
ENST00000393994.4:c.723+1628G>A (BBS1)	ENSP00000377563.2:n.723+1628G>A
ENST00000419755.3:c.941G>A	ENSP00000398526.3:p.Arg314Lys
ENST00000455748.6:c.539G>A (BBS1)	ENSP00000405764.2:p.Arg180Lys
ENST00000524458.5:c.*619G>A (BBS1)	ENSP00000436195.1:n.*619G>A
ENST00000525809.5:c.557G>A (BBS1)	ENSP00000431187.1:p.Arg186Lys
ENST00000526035.5:c.*533G>A (BBS1)	ENSP00000434197.1:n.*533G>A
ENST00000526760.5:c.*537G>A (BBS1)	ENSP00000432140.1:n.*537G>A
ENST00000526986.5:c.*112C>T (ZDHHC24)	ENSP00000431321.1:n.*112C>T
ENST00000529766.5:n.837G>A (BBS1)
ENST00000529955.5:n.801G>A (BBS1)
ENST00000532908.5:c.*490G>A (BBS1)	ENSP00000431866.1:n.*490G>A
ENST00000533430.5:n.608G>A (BBS1)
ENST00000533557.5:c.*490G>A (BBS1)	ENSP00000434619.1:n.*490G>A
ENST00000533644.5:c.*288G>A (BBS1)	ENSP00000436073.1:n.*288G>A
ENST00000534073.5:c.*234C>T (ZDHHC24)	ENSP00000436503.1:n.*234C>T
ENST00000630659.2:c.*537G>A (BBS1)	ENSP00000486455.1:n.*537G>A
NM_024649.4:c.830G>A (BBS1)	NP_078925.3:p.Arg277Lys
NM_001348571.1:c.*112C>T (ZDHHC24)	NP_001335500.1:n.*112C>T
XR_001747823.2:n.953C>T (ZDHHC24)
XR_949860.3:n.1024C>T (ZDHHC24)
NM_024649.5:c.830G>A (BBS1) MANE Select	NP_078925.3:p.Arg277Lys
NM_001348571.2:c.*112C>T (ZDHHC24)	NP_001335500.1:n.*112C>T